Angelman Updates with Dr. Terry Jo Bichell, featuring Dr. Joe Anderson

Quick Overview

In this episode of Angelman Updates with Dr. Terry Jo Bichell, Dr. Joe Anderson discusses his research on stem cell and gene therapies for various diseases, including Angelman Syndrome. He explains how his unique approach involves using the immune system to deliver UBE3A, the missing protein in Angelman Syndrome, to the brain. Dr. Anderson discusses the potential benefits of this therapy and its application in animal models. He also mentions the need for further experiments before starting clinical trials and encourages families to advocate for the therapy’s approval. The interview concludes with a discussion on Dr. Anderson’s personal life and his love for his dogs.

Introduction

In this edition of Angelman Updates with Dr. Terry Jo Bichell, we have the pleasure of interviewing Dr. Joe Anderson, a physician at the Center for the Heart and Spinal Cord Injury. Dr. Anderson’s research focuses on developing stem cell and gene therapies for various diseases, including Angelman Syndrome. In this interview, Dr. Anderson discusses his unique approach to genetic therapy and the potential benefits it holds for individuals with Angelman Syndrome.

Background

Dr. Anderson has been involved in stem cell and gene therapy research since graduate school in 2002. His interest in this field began during his undergraduate studies in Wisconsin, where he worked on molecular virology. He then pursued graduate school in Colorado, where he joined a lab that focused on HIV and gene therapy. This experience led him to explore the potential of stem cells and animal models in developing therapies for genetic disorders such as Tay-Sachs and Angelman Syndrome.

Unique Genetic Therapy Approach

Dr. Anderson’s genetic therapy approach involves using the patient’s own blood-forming stem cells to deliver therapeutic proteins. This method has been successful in protecting the body from infectious diseases like HIV. For Angelman Syndrome, Dr. Anderson’s team uses the immune system, specifically microglia cells that can cross the blood-brain barrier, to produce and deliver UBE3A, the protein missing in individuals with Angelman Syndrome. While Angelman Syndrome is not a blood disorder, the immune cells produced by the modified stem cells can reach the brain and potentially correct the dysfunctional neurons.

Administration and Dosage

To administer the therapy, Dr. Anderson’s team does not need to extract cells from the bone marrow. Instead, they use a drug to push the cells out into the blood, making it easier to collect them. Once the modified stem cells are infused back into the patient, they migrate to the bone marrow and continue to produce UBE3A-expressing immune cells for the rest of the person’s life. Determining the right dosage of UBE3A is a challenge, as each individual’s cells may be gene-modified at different levels. Preclinical studies involve comparing the levels of engraftment in animal models to behavioral and motor assays to assess the therapy’s effectiveness.

Promising Results

While the therapy has not been tested in humans with Angelman Syndrome yet, it has shown promising results in animal models, including mice. Both newborn and adult mice treated with the therapy exhibited wild-type phenotypes, with the adult mice reverting back to normal phenotypes. The therapy has shown improvements in learning, memory, and motor skills. Dr. Anderson’s team is now working on conducting seizure experiments to further evaluate the therapy’s impact.

Moving Towards Clinical Trials

To bring the therapy to clinical trials, Dr. Anderson’s team needs to navigate the regulatory process, including obtaining approval from the FDA. Advocacy from families affected by Angelman Syndrome can help raise awareness and support for the trial. The team is also conducting studies on other genetic disorders, such as Tay-Sachs, with the goal of advancing both projects simultaneously.

Conclusion

Dr. Joe Anderson’s unique approach to genetic therapy offers hope for individuals with Angelman Syndrome. By utilizing the patient’s own stem cells and the immune system, the therapy aims to correct the underlying genetic defect and potentially reverse the symptoms associated with the disorder. While more research and clinical trials are needed, the results from animal models are promising. Families affected by Angelman Syndrome can play a crucial role in advocating for the therapy and supporting its progression towards clinical trials.